Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency.
Eskander PN et al.
Cureus, 2021
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.
Rush ET et al.
Sage Open Medical Case Reports, 2014
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
Jakubiczka S et al.
European Journal of Pediatrics, 2007
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Climent C et al.
Human Mutation, 1999
Select a paper to view details